Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet1_AlphaMissense
Multikinase Treatment of Glioblastoma: Evaluating the Rationale for Regorafenib.
Muñoz-Mármol AM et al.
Cancers, 2025
39941744 (PubMed )
Supplement: cancers-17-00375-s001.zip › cancers-3382881-Supplementary_Table_S3.xlsx › Hoja1
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
Chevrier S et al.
International Journal of Molecular Medicine, 2022
35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations
Clonal hematopoiesis and risk of acute myeloid leukemia.
Young AL et al.
Haematologica, 2019
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants
Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.
Altmüller J et al.
Immunogenetics, 2017
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH5T2
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW et al.
Plos One, 2016
26919633 (PubMed )
Supplement: pone.0149405.s010.xlsx › testset
Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.
Haenisch B et al.
Immunology, 2012
Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects.
Molderings GJ et al.
Immunogenetics, 2010
Multiple novel alterations in Kit tyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder.
Molderings GJ et al.
Scandinavian Journal of Gastroenterology, 2007
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